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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 18-23946123-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=23946123&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 23946123,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_198129.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": 69,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.9211-21C>T",
"hgvs_p": null,
"transcript": "NM_198129.4",
"protein_id": "NP_937762.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3333,
"cds_start": null,
"cds_end": null,
"cds_length": 10002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000313654.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198129.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": 69,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.9211-21C>T",
"hgvs_p": null,
"transcript": "ENST00000313654.14",
"protein_id": "ENSP00000324532.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3333,
"cds_start": null,
"cds_end": null,
"cds_length": 10002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198129.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313654.14"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.4384-21C>T",
"hgvs_p": null,
"transcript": "NM_000227.6",
"protein_id": "NP_000218.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1724,
"cds_start": null,
"cds_end": null,
"cds_length": 5175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000269217.11",
"biotype": "protein_coding",
"feature": "NM_000227.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.4384-21C>T",
"hgvs_p": null,
"transcript": "ENST00000269217.11",
"protein_id": "ENSP00000269217.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1724,
"cds_start": null,
"cds_end": null,
"cds_length": 5175,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_000227.6",
"biotype": "protein_coding",
"feature": "ENST00000269217.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": 68,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.9043-21C>T",
"hgvs_p": null,
"transcript": "ENST00000399516.7",
"protein_id": "ENSP00000382432.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 3277,
"cds_start": null,
"cds_end": null,
"cds_length": 9834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399516.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.4216-21C>T",
"hgvs_p": null,
"transcript": "ENST00000587184.5",
"protein_id": "ENSP00000466557.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1668,
"cds_start": null,
"cds_end": null,
"cds_length": 5007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587184.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "n.3789-21C>T",
"hgvs_p": null,
"transcript": "ENST00000588770.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000588770.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": 68,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.9043-21C>T",
"hgvs_p": null,
"transcript": "NM_001127717.4",
"protein_id": "NP_001121189.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3277,
"cds_start": null,
"cds_end": null,
"cds_length": 9834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127717.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 42,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.5806-21C>T",
"hgvs_p": null,
"transcript": "ENST00000649721.1",
"protein_id": "ENSP00000497885.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2198,
"cds_start": null,
"cds_end": null,
"cds_length": 6597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649721.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.4216-21C>T",
"hgvs_p": null,
"transcript": "NM_001127718.4",
"protein_id": "NP_001121190.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1668,
"cds_start": null,
"cds_end": null,
"cds_length": 5007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127718.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": 69,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.9238-21C>T",
"hgvs_p": null,
"transcript": "XM_011525978.3",
"protein_id": "XP_011524280.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3342,
"cds_start": null,
"cds_end": null,
"cds_length": 10029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525978.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": 69,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.9229-21C>T",
"hgvs_p": null,
"transcript": "XM_011525979.3",
"protein_id": "XP_011524281.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3339,
"cds_start": null,
"cds_end": null,
"cds_length": 10020,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525979.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": 69,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.9220-21C>T",
"hgvs_p": null,
"transcript": "XM_011525980.3",
"protein_id": "XP_011524282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3336,
"cds_start": null,
"cds_end": null,
"cds_length": 10011,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525980.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": 68,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.9106-21C>T",
"hgvs_p": null,
"transcript": "XM_011525981.3",
"protein_id": "XP_011524283.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011525981.3"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": 68,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.9097-21C>T",
"hgvs_p": null,
"transcript": "XM_047437503.1",
"protein_id": "XP_047293459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3295,
"cds_start": null,
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"cds_length": 9888,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437503.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": 68,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.9079-21C>T",
"hgvs_p": null,
"transcript": "XM_047437504.1",
"protein_id": "XP_047293460.1",
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047437504.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": 69,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.9238-21C>T",
"hgvs_p": null,
"transcript": "XM_047437505.1",
"protein_id": "XP_047293461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3259,
"cds_start": null,
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"cds_length": 9780,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437505.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": 67,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8941-21C>T",
"hgvs_p": null,
"transcript": "XM_011525982.3",
"protein_id": "XP_011524284.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3243,
"cds_start": null,
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"cds_length": 9732,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011525982.3"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 73,
"intron_rank": 67,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.8914-21C>T",
"hgvs_p": null,
"transcript": "XM_047437506.1",
"protein_id": "XP_047293462.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 52,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.7090-21C>T",
"hgvs_p": null,
"transcript": "XM_017025743.1",
"protein_id": "XP_016881232.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_017025743.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.4780-21C>T",
"hgvs_p": null,
"transcript": "XM_017025744.2",
"protein_id": "XP_016881233.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1856,
"cds_start": null,
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"cds_length": 5571,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017025744.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"hgvs_c": "c.-62C>T",
"hgvs_p": null,
"transcript": "ENST00000590104.1",
"protein_id": "ENSP00000466658.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 36,
"cds_start": null,
"cds_end": null,
"cds_length": 111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590104.1"
}
],
"gene_symbol": "LAMA3",
"gene_hgnc_id": 6483,
"dbsnp": "rs2288592",
"frequency_reference_population": 0.6122005,
"hom_count_reference_population": 317497,
"allele_count_reference_population": 983958,
"gnomad_exomes_af": 0.622444,
"gnomad_genomes_af": 0.514033,
"gnomad_exomes_ac": 905897,
"gnomad_genomes_ac": 78061,
"gnomad_exomes_homalt": 294692,
"gnomad_genomes_homalt": 22805,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.09,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_198129.4",
"gene_symbol": "LAMA3",
"hgnc_id": 6483,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.9211-21C>T",
"hgvs_p": null
}
],
"clinvar_disease": " non-Herlitz type,Junctional epidermolysis bullosa,Junctional epidermolysis bullosa gravis of Herlitz,Laryngo-onycho-cutaneous syndrome,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:4",
"phenotype_combined": "not specified|Junctional epidermolysis bullosa, non-Herlitz type|Junctional epidermolysis bullosa gravis of Herlitz|Laryngo-onycho-cutaneous syndrome|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}